Canonical Allele Identifier: CA3263841

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 353883
• ClinVar RCV Id: RCV000391666 ; RCV001516585
• dbSNP Id: rs373522800
• ExAC: 5:52405533 C / T
• gnomAD v2: 5-52405533-C-T
• gnomAD v3: 5-53109703-C-T
• gnomAD v4: 5-53109703-C-T
• MyVariant Identifiers: chr5:g.52405533C>T (hg19) ; chr5:g.53109703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53109703C>T , CM000667.2:g.53109703C>T	GRCh38
NC_000005.9:g.52405533C>T , CM000667.1:g.52405533C>T	GRCh37
NC_000005.8:g.52441290C>T	NCBI36
NG_008435.2:g.5066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.-622G>A MANE Select	ENSP00000380157.3:n.-622G>A
ENST00000450852.8:c.18+9G>A MANE Plus Clinical	ENSP00000411022.3:n.18+9G>A
ENST00000361377.8:c.18+9G>A	ENSP00000355160.4:n.18+9G>A
ENST00000396954.7:c.-622G>A	ENSP00000380157.3:n.-622G>A
ENST00000450852.7:c.18+9G>A	ENSP00000411022.3:n.18+9G>A
ENST00000508922.5:c.18+9G>A	ENSP00000426274.1:n.18+9G>A
ENST00000510818.6:c.18+9G>A	ENSP00000424267.2:n.18+9G>A
ENST00000514553.2:n.16+9G>A
ENST00000527216.5:c.3+282G>A	ENSP00000435326.1:n.3+282G>A
ENST00000582677.5:c.18+9G>A	ENSP00000462870.1:n.18+9G>A
ENST00000584946.5:c.18+9G>A	ENSP00000464663.1:n.18+9G>A
NM_004531.4:c.-622G>A	NP_004522.1:n.-622G>A
NM_176806.3:c.18+9G>A	NP_789776.1:n.18+9G>A
NM_004531.5:c.-622G>A MANE Select	NP_004522.1:n.-622G>A
NM_176806.4:c.18+9G>A MANE Plus Clinical	NP_789776.1:n.18+9G>A